Labrum, 2009: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
8
|
n.a.
|
-Gait ataxia (interictal)
Headache Nausea (ictal) Ataxia -Limb ataxia (interictal) Gait ataxia Ataxia (ictal) Ataxia, limb Nausea -Gait ataxia (ictal) Emotional stress trigger Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
39
|
n.a.
|
n.a.
|
Headache
Nystagmus -Gait ataxia (ictal) Dysarthria Square wave jerks Ataxia Ataxia (ictal) Gait ataxia Nystagmus (interictal) Dysarthria (ictal) Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
n.a.
|
n.a.
|
Ataxia, limb
Headache Nystagmus Nystagmus (interictal) Square wave jerks Ataxia Vertigo (ictal) Ataxia, limb (ictal) -Gait ataxia (interictal) Gait ataxia Vomiting Dysarthria (ictal) Vomiting (ictal) Vertigo Dysarthria Headache (ictal) Ataxia (ictal) -Gait ataxia (ictal) Show more (+15) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
-Gait ataxia (ictal)
Ataxia (ictal) Nausea (ictal) Dysarthria (ictal) Gait ataxia Ataxia Nystagmus Nausea Dysarthria Emotional stress trigger Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
59
|
n.a.
|
Dysarthria (ictal)
Gait ataxia -Gait ataxia (interictal) -Gait ataxia (ictal) Nystagmus Dysarthria Diplopia Ataxia Headache Fatigue trigger Nystagmus (interictal) Ataxia (ictal) Ataxia, limb Emotional stress trigger Dysarthria (interictal) Diplopia (ictal) Headache (ictal) Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
10
|
n.a.
|
n.a.
|
Gait ataxia
Ataxia, limb Cerebellar atrophy Nystagmus Vertigo (ictal) Nausea Nausea (ictal) -Limb ataxia (interictal) Nystagmus (ictal) Ataxia Vertigo -Gait ataxia (ictal) Seizures Vomiting (ictal) Ataxia (ictal) Vomiting Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
n.a.
|
-Gait ataxia (ictal)
Gait ataxia Vomiting Nystagmus Nystagmus (interictal) Ataxia (ictal) Vomiting (ictal) Ataxia -Gait ataxia (interictal) Show more (+6) |
n.a.
|